Linked Data
dbSNP Id:
rs9611519
ExAC:
22:41613188 C / T
gnomAD v2:
22-41613188-C-T
gnomAD v3:
22-41217184-C-T
gnomAD v4:
22-41217184-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41217184C>T , CM000684.2:g.41217184C>T | GRCh38 |
| NC_000022.10:g.41613188C>T , CM000684.1:g.41613188C>T | GRCh37 |
| NC_000022.9:g.39943134C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216237.10:c.582C>T (L3MBTL2) MANE Select | ENSP00000216237.5:p.Pro194= | |
| ENST00000216237.9:c.582C>T (L3MBTL2) | ENSP00000216237.5:p.Pro194= | |
| ENST00000449635.5:c.424C>T (L3MBTL2) | ||
| ENST00000450939.1:c.558C>T (L3MBTL2) | ENSP00000403767.1:p.Pro186= | |
| ENST00000452106.5:c.582C>T (L3MBTL2) | ENSP00000414423.1:p.Pro194= | |
| ENST00000466589.5:n.636C>T (L3MBTL2) | ||
| ENST00000479978.5:n.624C>T (L3MBTL2) | ||
| ENST00000481902.5:n.705C>T (L3MBTL2) | ||
| NM_031488.4:c.582C>T (L3MBTL2) | NP_113676.2:p.Pro194= | |
| XM_005261370.2:c.*194-7233G>A (CHADL) | XP_005261427.1:n.*194-7233G>A | |
| XM_011529932.1:c.*194-7233G>A (CHADL) | XP_011528234.1:n.*194-7233G>A | |
| XM_011529934.1:c.2467-7233G>A (CHADL) | XP_011528236.1:n.2467-7233G>A | |
| XM_011530420.1:c.528C>T (L3MBTL2) | XP_011528722.1:p.Pro176= | |
| XM_011530421.1:c.309C>T (L3MBTL2) | XP_011528723.1:p.Pro103= | |
| XR_937933.1:n.633C>T (L3MBTL2) | ||
| NR_148200.1:n.444G>A (L3MBTL2-AS1) | ||
| XM_011530420.2:c.528C>T (L3MBTL2) | XP_011528722.1:p.Pro176= | |
| XM_011530421.3:c.309C>T (L3MBTL2) | XP_011528723.1:p.Pro103= | |
| XM_017028976.1:c.448C>T (L3MBTL2) | XP_016884465.1:p.Arg150Cys | |
| XM_017028977.1:c.-456C>T (L3MBTL2) | XP_016884466.1:n.-456C>T | |
| XM_017028978.1:c.-378C>T (L3MBTL2) | XP_016884467.1:n.-378C>T | |
| XM_017028979.1:c.-378C>T (L3MBTL2) | XP_016884468.1:n.-378C>T | |
| XM_017028980.2:c.-192C>T (L3MBTL2) | XP_016884469.1:n.-192C>T | |
| XM_024452279.1:c.-378C>T (L3MBTL2) | XP_024308047.1:n.-378C>T | |
| XR_001755320.2:n.633C>T (L3MBTL2) | ||
| XR_001755321.2:n.633C>T (L3MBTL2) | ||
| XR_001755322.2:n.633C>T (L3MBTL2) | ||
| XR_002958718.1:n.360C>T (L3MBTL2) | ||
| XR_002958719.1:n.633C>T (L3MBTL2) | ||
| NM_031488.5:c.582C>T (L3MBTL2) MANE Select | NP_113676.2:p.Pro194= |